Disease #06630 (MRD50 (Mental retardation, autosomal dominant 50), OMIM:617787)

Official abbreviation MRD50
Name Mental retardation, autosomal dominant 50
OMIM ID 617787
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene NAA15
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00436189 268511 - - M no Germany - - - - - MRD50 Intellectual disability, Behavioral problems, Motor delay NAA15 NAA15 1 1 Andreas Laner
00451709 297403 - - M ? ? (unknown) - - - - - MRD50 Global developmental delay, Autistic behavior NAA15 NAA15 1 1 Andreas Laner
00464579 323116 - - F no ? (unknown) - - - - - MRD50 Delayed speech and language development, Neurodevelopmental delay, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression NAA15 NAA15 1 1 Andreas Laner
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